Associated Papers
Screening for Familial Hypercholesterolemia in Tunisia using Whole Exome Sequencing: Importance in diagnosis and healthcare management.
Mahjoub F et al.
La Tunisie Medicale, 2025
Reproductive Carrier Screening: Identifying Families at Risk for Familial Hypercholesterolemia in the United States.
Souter V et al.
Circulation. Genomic and Precision Medicine, 2024
38506081 (PubMed )
Supplement: hcg-17-e004457-s001.docx
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › DBASS3_index
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
Sturm AC et al.
Jama Cardiology, 2021
34037665 (PubMed )
Supplement: jamacardiol-e211301-s001.pdf
Lomitapide for treatment of homozygous familial hypercholesterolemia: The Québec experience.
Aljenedil S et al.
Atherosclerosis, 2020
Biased exon/intron distribution of cryptic and de novo 3' splice sites.
Královicová J et al.
Nucleic Acids Research, 2005
Coronary artery disease in a child with homozygous familial hypercholesterolemia: Regression after liver transplantation.
Cephus CE et al.
Journal of Clinical Lipidology, 0
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